2658-6533Научные результаты биомедицинских исследований2658-653310.18413/2658-6533-2023-9-2-0-13072Генетика<strong>Менделевская рандомизация: применение генетической информации в эпидемиологических исследованиях (обзор)</strong><strong>Mendelian randomization: using genetic information in epidemiological studies (review)</strong>ПлотниковДенис ЮрьевичPlotnikovDenis Y.denis.plotnikov@kazangmu.ru20239200

Актуальность: Менделевская рандомизация &ndash; способ тестирования причинно-следственных связей между модифицируемыми факторами риска и показателями здоровья (или социально-экономическими признаками), основанный на использовании генетической информации в рамках метода инструментальных переменных. За последние 5 лет, согласно Scopus было опубликовано более 4,6 тысяч работ, связанных с применением Менделевской рандомизации. Цель исследования: Изучить статистические методы, используемые при проведении Менделевской рандомизации и оценить возможности применения данного способа в генетической эпидемиологии. Материалы и методы: Проведен анализ зарубежной научной литературы по теории и практическому применению Менделевской рандомизации в установлении и оценке причинно-следственного влияния модифицируемых факторов риска на исходы. Результаты: В настоящей статье дается краткое ознакомление с теоретическими основами Менделевской рандомизации, охватывая основные концепции, критерии и методы оценки. В данной работе приводится пример исследования, в котором применялась Менделевская рандомизации, также описаны основные направления применения этого способа в эпидемиологии и перспективы применения метода в будущем. Заключение: Оценка эффекта, полученная в Менделевской рандомизации менее подвержена смещению по сравнению с обсервационными исследованиями, поскольку генетические варианты случайным образом передаются от родителей к потомству и, как следствие, не должны быть связаны с потенциальными вмешивающимися факторами, влияющими на ассоциацию фактора риска с исходом. Менделевская рандомизация позволяет в короткие сроки установить и оценить причинно-следственную связь, и определить значимые факторы риска развития того или иного заболевания. Появление большого количества информации о генетических вариантах в эру полногеномных ассоциативных исследований значительно упрощает проведение МР анализа &nbsp; &nbsp; &nbsp;

Background:&nbsp;Mendelian randomization is a research method that exploits the instrumental variable framework using genetic information to assess the causality of the relationship between modifiable risk factors and health indicators (or socioeconomic traits). Over the past 5 years, according to Scopus, more than 4.6 thousand papers related to the use of Mendelian randomization have been published. The aim of the study:&nbsp;To study the statistical approaches used in the Mendelian randomization and evaluate the possibilities of using this method in genetic epidemiology. Materials and methods:&nbsp;The analysis of international scientific literature on the theory and practical application of Mendelian randomization in establishing and evaluating the causal effect of modifiable risk factors on outcomes was carried out. Results:&nbsp;This article provides a brief introduction to the theoretical foundations of Mendelian randomization, covering the main concepts, criteria, and evaluation methods. This paper provides an example of a study in which Mendelian randomization was used, it also describes the main areas of application of this method in epidemiology and the prospects for using the method in the future. Conclusion:&nbsp;The effect estimate obtained in Mendelian randomization is less prone to bias compared to one obtained in observational studies, since genetic variants are randomly assigned from parents to offspring and, as a result, should not be associated with potential confounding factors affecting the association of a risk factor with an outcome. Mendelian randomization allows one to assess and evaluate a causal relationship, and to determine causal risk factors for the development of a particular disease. A huge amount of genetic information is available in the genome-wide association studies era; that makes it easier to conduct the MR analysis.

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